regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BGN_chrX_153489980_153514546 | 153509028 | CCT | C | 3_prime_UTR_variant | MODIFIER | HG02165.hp2 HG02572.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0021a0001c0001t0026a0001c0001t0055others(3): Show | a0001c0001t0021g0017a0001c0001t0026g0022a0001c0001t0055g0164others(3): Show | 9 | 321 | 0.0280 | -2 | c.*61 others(11): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 612 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BGN_chrX_153489980_153514546 | 153509061 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01433.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0010a0001c0001t0045others(4): Show | a0001c0001t0003g0007a0001c0001t0010g0005a0001c0001t0010g0040others(9): Show | 15 | 321 | 0.0467 | -2 | c.*66 others(11): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 660 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BGN_chrX_153489980_153514546 | 153511713 | AAC | A | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0194 | 1 | 321 | 0.0031 | -2 | c.*32 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 2168 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153512611 | TCA | T | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03225.hp1 |
a0001 | a0001c0003 | a0001c0003t0029a0001c0003t0087 | a0001c0003t0029g0063a0001c0003t0029g0064a0001c0003t0087g0076 | 3 | 321 | 0.0094 | -2 | c.*41 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3066 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153512724 | CCA | C | downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0002 | 1 | 321 | 0.0031 | -2 | c.*42 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3179 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153512770 | ACT | A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0037a0001c0005t0057a0001c0005t0059others(2): Show | a0001c0005t0037g0024a0001c0005t0057g0059a0001c0005t0059g0062others(2): Show | 6 | 321 | 0.0187 | -2 | c.*43 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3225 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153512864 | TCA | T | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0193 | 1 | 321 | 0.0031 | -2 | c.*44 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3319 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513252 | TGG | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0013others(23): Show | a0001c0001t0005g0057a0001c0001t0008g0108a0001c0001t0013g0104others(44): Show | 72 | 321 | 0.2243 | -2 | c.*48 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3707 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513600 | CAT | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG01884.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0026others(25): Show | a0001c0001t0001g0044a0001c0001t0017g0022a0001c0001t0026g0022others(34): Show | 44 | 321 | 0.1371 | -2 | c.*51 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4055 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513615 | CTG | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0013others(17): Show | a0001c0001t0005g0057a0001c0001t0008g0108a0001c0001t0013g0104others(38): Show | 65 | 321 | 0.2025 | -2 | c.*51 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4070 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513650 | CGT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(120): Show | 156 | 321 | 0.4860 | -2 | c.*52 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4105 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513663 | CTG | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG01516.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0029others(5): Show | a0001c0001t0001g0030a0001c0002t0002g0003a0001c0003t0029g0063others(6): Show | 11 | 321 | 0.0343 | -2 | c.*52 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4118 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513703 | ATG | A | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0052 | a0001c0006t0052g0025 | 1 | 321 | 0.0031 | -2 | c.*52 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4158 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513743 | CTG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(120): Show | 156 | 321 | 0.4860 | -2 | c.*52 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4198 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513755 | GTC | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0037a0001c0005t0057a0001c0005t0059others(1): Show | a0001c0005t0037g0024a0001c0005t0057g0059a0001c0005t0059g0062others(1): Show | 5 | 321 | 0.0156 | -2 | c.*53 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4210 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513818 | CGT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(44): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(119): Show | 155 | 321 | 0.4829 | -2 | c.*53 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4273 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153513833 | CTG | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0022a0001c0003t0033a0001c0003t0071 | a0001c0003t0022g0023a0001c0003t0033g0021a0001c0003t0071g0021 | 5 | 321 | 0.0156 | -2 | c.*53 others(13): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 4288 | chrX | TogoVar | ||||||
BHLHA15_chr7_98206439_98220457 | 98207937 | AAT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(352): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(48): Show | 355 | 456 | 0.7785 | -2 | c.-36 others(13): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 3501 | chr7 | TogoVar | ||||||
BHLHA15_chr7_98206439_98220457 | 98210832 | CAG | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0001t0019others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0015g0001others(5): Show | 72 | 456 | 0.1579 | -2 | c.-72 others(11): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 606 | chr7 | TogoVar | ||||||
BHLHA15_chr7_98206439_98220457 | 98216558 | CTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(150): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(29): Show | 153 | 456 | 0.3355 | -2 | c.*36 others(13): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 1102 | chr7 | TogoVar | ||||||
BHLHA15_chr7_98206439_98220457 | 98216723 | ATT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(165): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(29): Show | 168 | 456 | 0.3684 | -2 | c.*38 others(13): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 1267 | chr7 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1265744 | CTT | C | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01257.hp2 HG01515.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0002g0000 | 8 | 442 | 0.0181 | -2 | c.-48 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4699 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1268679 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(134): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0002t0002g0000others(5): Show | 137 | 442 | 0.3100 | -2 | c.-18 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 1764 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1274633 | CTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0002t0002g0000others(1): Show | 109 | 442 | 0.2466 | -2 | c.*33 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 2819 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275402 | GAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(138): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0001t0001g0000a0001c0002t0002g0000a0001c0002t0005g0000others(3): Show | 141 | 442 | 0.3190 | -2 | c.*41 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3588 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275446 | CTG | C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02717.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0000a0001c0002t0002g0000 | 15 | 442 | 0.0339 | -2 | c.*41 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3632 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275497 | AGT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(156): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0002t0002g0000others(5): Show | 159 | 442 | 0.3597 | -2 | c.*42 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3683 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275602 | TGG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(135): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0001t0001g0000a0001c0002t0002g0000a0001c0002t0005g0000others(3): Show | 138 | 442 | 0.3122 | -2 | c.*43 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3788 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275643 | CTG | C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0000 | 4 | 442 | 0.0091 | -2 | c.*43 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3829 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275683 | TGA | T | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG01346.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0002g0000 | 16 | 442 | 0.0362 | -2 | c.*44 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3869 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275748 | TGA | T | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0000 | 4 | 442 | 0.0091 | -2 | c.*44 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3934 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275750 | AGT | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 12 | 442 | 0.0272 | -2 | c.*44 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3936 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275800 | TGA | T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 4 | 442 | 0.0091 | -2 | c.*45 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3986 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275810 | AGT | A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG06807.hp1 HG06807.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0006a0001c0005t0002 | a0001c0003t0006g0000a0001c0005t0002g0000 | 3 | 442 | 0.0068 | -2 | c.*45 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3996 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275816 | TGA | T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02647.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0002g0000 | 12 | 442 | 0.0272 | -2 | c.*45 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4002 | chr17 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275879 | AGT | A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00642.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0002g0000 | 17 | 442 | 0.0385 | -2 | c.*46 others(13): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4065 | chr17 | TogoVar | ||||||
BHLHE40_chr3_4974437_4990323 | 4981185 | TAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(82): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(14): Show | 85 | 436 | 0.1950 | -2 | c.259 others(17): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4988362 | GGC | G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG00738.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(8): Show | 29 | 436 | 0.0665 | -2 | c.*46 others(13): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3040 | chr3 | TogoVar | ||||||
BHLHE40_chr3_4974437_4990323 | 4989962 | GAA | G | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02647.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0010a0001c0001t0004g0031a0001c0001t0006g0006others(7): Show | 11 | 436 | 0.0252 | -2 | c.*62 others(13): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 4640 | chr3 | TogoVar | ||||||
BHLHE41_chr12_26115030_26130037 | 26127614 | CAT | C | upstream_gene_variant | MODIFIER | HG02132.hp1 HG02135.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0002 | 3 | 422 | 0.0071 | -2 | c.-28 others(13): Show |
BHLHE41 | ENSG00000123095.6 | transcript | ENST00000242728.5 | protein_coding | 2578 | chr12 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79069165 | TGC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(140): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0003a0001c0001t0015a0001c0002t0001others(9): Show | a0001c0001t0003g0036a0001c0001t0003g0037a0001c0001t0003g0104others(81): Show | 143 | 390 | 0.3667 | -2 | c.-61 others(11): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 601 | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79071822 | TAA | T | intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG01496.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0015a0001c0001t0001g0098a0001c0001t0001g0099others(16): Show | 23 | 390 | 0.0590 | -2 | c.33+ others(17): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79078073 | CAG | C | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG02630.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0044a0002c0003t0001g0210a0002c0003t0001g0211others(3): Show | 7 | 390 | 0.0180 | -2 | c.166 others(17): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79084882 | GAT | G | intron_variant | MODIFIER | HG00609.hp2 NA18972.hp2 NA18993.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0137a0001c0002t0002g0153a0001c0002t0002g0154others(1): Show | 4 | 390 | 0.0103 | -2 | c.101 others(21): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79086998 | ATG | A | intron_variant | MODIFIER | HG00741.hp2 HG01361.hp1 HG02040.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0144a0001c0002t0004g0039a0001c0002t0004g0118others(1): Show | 5 | 390 | 0.0128 | -2 | c.101 others(21): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79087014 | GTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00621.hp1 others(135): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(66): Show | 138 | 390 | 0.3539 | -2 | c.101 others(21): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79088358 | CTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(48): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0053others(28): Show | 51 | 390 | 0.1308 | -2 | c.101 others(17): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BHMT_chr5_79106809_79137288 | 79108640 | GAA | G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01243.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(16): Show | 29 | 432 | 0.0671 | -2 | c.-32 others(13): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 3168 | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79114118 | CAT | C | intron_variant | MODIFIER | HG01106.hp1 HG01261.hp1 HG01496.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0021a0001c0001t0001g0042a0001c0001t0001g0286others(7): Show | 13 | 432 | 0.0301 | -2 | c.34- others(17): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BHMT_chr5_79106809_79137288 | 79136976 | GTA | G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG02148.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0022a0001c0001t0001g0043a0001c0001t0001g0075others(10): Show | 14 | 432 | 0.0324 | -2 | c.*58 others(13): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4689 | chr5 | TogoVar |